Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001176577 | SCV001340600 | likely benign | Cardiomyopathy | 2018-12-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001458206 | SCV001662022 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2022-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002320392 | SCV002611045 | likely benign | Cardiovascular phenotype | 2021-05-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |